Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:lymphedema-distichiasis syndrome
go back to main search page
Accession:DOID:0111509 term browser browse the term
Definition:A syndrome characterized by lymphedema of the limbs and double rows of eyelashes that has_material_basis_in heterozygous mutation in FOXC2 on chromosome 16q24.1. (DO)
Synonyms:exact_synonym: LPHDST;   hereditary lymphedema-distichiasis syndrome;   lymphedema with distichiasis
 narrow_synonym: lymphedema-distichiasis syndrome with renal disease and diabetes mellitus
 primary_id: MESH:C537710
 alt_id: OMIM:153400
 xref: GARD:333;   NCI:C128191;   ORDO:33001
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
lymphedema-distichiasis syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc2 forkhead box C2 ISO ClinVar Annotator: match by term: Distichiasis-lymphedema syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:153400
OMIM
ClinVar
CTD
PMID:10417285, PMID:11078474, PMID:11371511, PMID:11499682, PMID:12114478, PMID:12485195, PMID:16081467, PMID:18197197, PMID:19760751, PMID:20301630, PMID:22768468, PMID:25741868, PMID:27276711, PMID:28492532 NCBI chr19:53,044,379...53,047,081
Ensembl chr19:53,044,379...53,047,081
JBrowse link
Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc2 forkhead box C2 ISO ClinVar Annotator: match by null ClinVar PMID:15523639 NCBI chr19:53,044,379...53,047,081
Ensembl chr19:53,044,379...53,047,081
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    syndrome 6993
      lymphedema-distichiasis syndrome 1
        Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus 1
Path 2
Term Annotations click to browse term
  disease 16096
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5628
            autosomal genetic disease 4631
              autosomal dominant disease 2996
                lymphedema-distichiasis syndrome 1
                  Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.